Incidental Mutation 'R6114:Sox8'
ID 485045
Institutional Source Beutler Lab
Gene Symbol Sox8
Ensembl Gene ENSMUSG00000024176
Gene Name SRY (sex determining region Y)-box 8
Synonyms
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25565892-25570686 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25567520 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 403 (D403G)
Ref Sequence ENSEMBL: ENSMUSP00000025003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025003] [ENSMUST00000173447]
AlphaFold Q04886
Predicted Effect probably damaging
Transcript: ENSMUST00000025003
AA Change: D403G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: D403G

DomainStartEndE-ValueType
Pfam:Sox_N 18 86 3.8e-27 PFAM
HMG 98 168 3.86e-28 SMART
low complexity region 208 228 N/A INTRINSIC
low complexity region 303 321 N/A INTRINSIC
low complexity region 375 397 N/A INTRINSIC
low complexity region 407 425 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163493
Predicted Effect probably benign
Transcript: ENSMUST00000173447
SMART Domains Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176

DomainStartEndE-ValueType
Pfam:Sox_N 3 87 3.3e-25 PFAM
HMG 98 168 3.86e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174560
SMART Domains Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176

DomainStartEndE-ValueType
HMG 1 66 1.19e-19 SMART
Meta Mutation Damage Score 0.4462 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,571,803 (GRCm38) V237L probably benign Het
Aff1 T C 5: 103,842,297 (GRCm38) S878P probably damaging Het
Ahcy A C 2: 155,062,159 (GRCm38) L386R probably damaging Het
Ank2 T C 3: 127,011,051 (GRCm38) N607D probably damaging Het
Arid5b T C 10: 68,097,744 (GRCm38) D776G possibly damaging Het
Art4 T A 6: 136,857,213 (GRCm38) T11S unknown Het
Blm T C 7: 80,513,487 (GRCm38) T39A probably damaging Het
Cabin1 T A 10: 75,747,971 (GRCm38) M221L probably benign Het
Cacna1c T C 6: 118,596,140 (GRCm38) T1675A probably benign Het
Cacnb2 A T 2: 14,975,201 (GRCm38) H285L possibly damaging Het
Cchcr1 A G 17: 35,525,330 (GRCm38) E339G probably damaging Het
Cd14 A G 18: 36,725,953 (GRCm38) W150R probably damaging Het
Cep162 A G 9: 87,203,710 (GRCm38) I1187T probably benign Het
Cntnap4 A G 8: 112,841,753 (GRCm38) H807R probably damaging Het
Copb1 T A 7: 114,246,801 (GRCm38) H178L probably benign Het
Cpxm2 A G 7: 132,154,306 (GRCm38) V103A probably benign Het
Egfr A G 11: 16,904,374 (GRCm38) T849A possibly damaging Het
Endou T A 15: 97,713,876 (GRCm38) K294* probably null Het
Fam208b G A 13: 3,590,081 (GRCm38) T352M probably damaging Het
Gm884 T A 11: 103,617,791 (GRCm38) probably benign Het
Hoxd9 A G 2: 74,699,365 (GRCm38) N322D probably damaging Het
Hsph1 C A 5: 149,627,387 (GRCm38) V416L possibly damaging Het
Igkv4-78 T A 6: 69,059,759 (GRCm38) T97S possibly damaging Het
Itga10 G T 3: 96,649,035 (GRCm38) C162F probably damaging Het
Lmod2 A G 6: 24,603,692 (GRCm38) E222G probably damaging Het
Lpar5 A G 6: 125,081,676 (GRCm38) N120S probably damaging Het
Lrrk2 A G 15: 91,747,826 (GRCm38) I1318V probably benign Het
Lst1 T C 17: 35,188,360 (GRCm38) T11A possibly damaging Het
Mfn1 C A 3: 32,563,836 (GRCm38) A106D probably damaging Het
Ms4a12 G T 19: 11,215,290 (GRCm38) N227K probably benign Het
Nr1h4 T A 10: 89,478,816 (GRCm38) N273Y possibly damaging Het
Nrd1 A T 4: 109,044,585 (GRCm38) K617M probably damaging Het
Olfr355 A T 2: 36,927,689 (GRCm38) C142S possibly damaging Het
Olfr516 A T 7: 108,845,386 (GRCm38) M208K possibly damaging Het
Olfr771 T A 10: 129,160,333 (GRCm38) H217L probably benign Het
Pcdhgc3 C G 18: 37,807,872 (GRCm38) T442R probably benign Het
Pcnx2 T C 8: 125,773,947 (GRCm38) N1468S probably damaging Het
Pde2a A T 7: 101,511,112 (GRCm38) probably null Het
Pitx2 C G 3: 129,204,413 (GRCm38) probably null Het
Reck T A 4: 43,922,895 (GRCm38) I390N probably damaging Het
Rora A G 9: 69,371,323 (GRCm38) N254S probably benign Het
Samd4b A G 7: 28,522,792 (GRCm38) probably null Het
Scn8a A G 15: 101,040,596 (GRCm38) T1949A probably damaging Het
Slc22a15 A T 3: 101,860,852 (GRCm38) Y346* probably null Het
Slc24a5 A G 2: 125,083,092 (GRCm38) T218A probably benign Het
Slc38a10 G A 11: 120,129,312 (GRCm38) Q305* probably null Het
Slc45a4 G A 15: 73,605,604 (GRCm38) P28S probably damaging Het
Smyd5 A T 6: 85,440,262 (GRCm38) probably benign Het
Stx7 A G 10: 24,184,985 (GRCm38) probably null Het
Svil T C 18: 5,108,639 (GRCm38) S1522P probably damaging Het
Sycp2 G C 2: 178,348,245 (GRCm38) R1403G probably benign Het
Tcf25 A T 8: 123,384,375 (GRCm38) K192M probably damaging Het
Tecpr1 C T 5: 144,204,640 (GRCm38) G804S possibly damaging Het
Teddm1a C G 1: 153,891,868 (GRCm38) S26C probably damaging Het
Usp13 C T 3: 32,854,669 (GRCm38) P155S probably damaging Het
Usp17lb T A 7: 104,840,364 (GRCm38) D451V possibly damaging Het
Vmn1r173 A G 7: 23,702,829 (GRCm38) N163S possibly damaging Het
Vmn2r103 G T 17: 19,812,325 (GRCm38) C787F probably damaging Het
Vmn2r106 G A 17: 20,268,376 (GRCm38) P587L probably benign Het
Wdr24 C T 17: 25,824,605 (GRCm38) H134Y probably benign Het
Zbtb40 T A 4: 136,988,691 (GRCm38) I988F probably damaging Het
Zfp536 A T 7: 37,479,736 (GRCm38) I84N probably damaging Het
Zfp651 T A 9: 121,765,595 (GRCm38) F540Y probably damaging Het
Other mutations in Sox8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Sox8 APN 17 25,567,528 (GRCm38) splice site probably null
IGL01918:Sox8 APN 17 25,570,137 (GRCm38) missense probably damaging 1.00
IGL02672:Sox8 APN 17 25,568,989 (GRCm38) missense probably damaging 1.00
IGL03371:Sox8 APN 17 25,567,440 (GRCm38) missense probably damaging 1.00
R1398:Sox8 UTSW 17 25,567,883 (GRCm38) missense probably benign 0.01
R1673:Sox8 UTSW 17 25,567,482 (GRCm38) missense possibly damaging 0.77
R1742:Sox8 UTSW 17 25,567,941 (GRCm38) missense probably damaging 0.99
R4019:Sox8 UTSW 17 25,570,297 (GRCm38) missense probably damaging 1.00
R4353:Sox8 UTSW 17 25,567,335 (GRCm38) makesense probably null
R4466:Sox8 UTSW 17 25,568,905 (GRCm38) missense probably benign 0.37
R4893:Sox8 UTSW 17 25,568,989 (GRCm38) missense probably damaging 1.00
R4929:Sox8 UTSW 17 25,570,356 (GRCm38) missense probably benign 0.21
R5915:Sox8 UTSW 17 25,567,469 (GRCm38) missense probably damaging 1.00
R6915:Sox8 UTSW 17 25,567,914 (GRCm38) missense probably damaging 1.00
R7030:Sox8 UTSW 17 25,570,108 (GRCm38) critical splice donor site probably null
R7232:Sox8 UTSW 17 25,567,540 (GRCm38) missense probably benign 0.01
R7549:Sox8 UTSW 17 25,567,961 (GRCm38) missense probably damaging 0.99
R8262:Sox8 UTSW 17 25,567,643 (GRCm38) missense possibly damaging 0.89
R8862:Sox8 UTSW 17 25,568,071 (GRCm38) missense possibly damaging 0.81
R9015:Sox8 UTSW 17 25,570,161 (GRCm38) missense probably damaging 1.00
R9109:Sox8 UTSW 17 25,568,839 (GRCm38) missense possibly damaging 0.94
R9387:Sox8 UTSW 17 25,567,364 (GRCm38) missense probably damaging 1.00
R9406:Sox8 UTSW 17 25,567,660 (GRCm38) missense probably damaging 1.00
R9646:Sox8 UTSW 17 25,567,897 (GRCm38) missense probably benign 0.00
Z1177:Sox8 UTSW 17 25,568,984 (GRCm38) missense probably damaging 1.00
Z1177:Sox8 UTSW 17 25,567,743 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAACTCAAAGATCTGGCTAGACTTC -3'
(R):5'- TTCGGCCACAGATCAAGAC -3'

Sequencing Primer
(F):5'- TAGACTTCCTGGATGCAGCAG -3'
(R):5'- ACGGAGCAGCTGAGTCCTAG -3'
Posted On 2017-08-16